Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.040 1.000 4 2015 2018
dbSNP: rs1243046808
rs1243046808
2 0.925 0.160 6 43770758 missense variant C/G;T snv 2.0E-05; 9.8E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs13207351
rs13207351
4 0.851 0.280 6 43770057 upstream gene variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs3025020
rs3025020
3 0.882 0.240 6 43781373 non coding transcript exon variant C/T snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs3025021
rs3025021
4 0.882 0.160 6 43781426 non coding transcript exon variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3025035
rs3025035
4 0.851 0.240 6 43783622 non coding transcript exon variant C/T snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs3025036
rs3025036
1 1.000 0.080 6 43783932 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs374057152
rs374057152
3 0.925 0.200 6 43777592 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs748352475
rs748352475
2 0.925 0.160 6 43777546 missense variant C/G snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs833070
rs833070
11 0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58 0.010 1.000 1 2018 2018